chr6:29723805:C>A Detail (hg38) (HLA-F)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr6:29,691,582-29,691,582 View the variant detail on this assembly version.
hg38	chr6:29,723,805-29,723,805

HGVS

HLA-F

Type	Transcript	Protein
RefSeq	NM_001098479.1:c.212C>A	NP_001091949.1:p.Pro71Gln
	NM_018950.2:c.212C>A	NP_061823.2:p.Pro71Gln
	NM_001098478.1:c.212C>A	NP_001091948.1:p.Pro71Gln
Ensemble	ENST00000259951.12:c.212C>A	ENST00000259951.12:p.Pro71Gln
	ENST00000334668.8:c.212C>A	ENST00000334668.8:p.Pro71Gln
	ENST00000376861.5:c.212C>A	ENST00000376861.5:p.Pro71Gln
	ENST00000434407.6:c.212C>A	ENST00000434407.6:p.Pro71Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

HLA-F

Type	Database	ID	Link
Gene	MIM	143110	OMIM
	HGNC	4963	HGNC
	Ensembl	ENSG00000204642	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv202059627	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	hepatitis B	Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated...	BeFree	22015712	Detail
0.004	hepatitis B	Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated...	BeFree	22015712	Detail
0.001	liver carcinoma	Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated...	BeFree	22015712	Detail

Annotation

Annotations

Descrption	Source	Links
Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated with altered suscep...	DisGeNET	Detail
Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated with altered suscep...	DisGeNET	Detail
Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated with altered suscep...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr6:29,723,805-29,723,805
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 5122
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 73956
Allele Counts in All Race (ExAC): 1136
Heterozygous Counts in All Race (ExAC): 1116
Homozygous Counts in All Race (ExAC): 10
Allele Frequency in All Race (ExAC): 0.01536048461247228

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